Galactosemia

Galactosemia bụ ọnọdụ nke ahụ na-enweghị ike iji (metabolize) galactose shuga dị mfe.

Galactosemia bụ nsogbu a ketara eketa. Nke a pụtara na ọ gafere ezinụlọ. Ọ bụrụ na nne na nna nwere otu mkpụrụ ndụ ihe nketa nke na-anaghị arụ ọrụ nke nwere ike ibute galactosemia, nwa ha ọ bụla nwere ohere 25% (1 na 4).

Enwere ụdị 3 nke ọrịa ahụ:

• Galactose-1 phosphate uridyl transferase (GALT) erughi: galactosemia a na-ahụkarị, nke kachasịkarịsịrị njọ
• Enweghi nke galactose kinase (GALK)
• Enweghi nke galactose-6-phosphate epimerase (GALE)

Ndi mmadu nwere galactosemia enweghi ike igbatu galactose shuga di mfe. Galactose mejupụtara ọkara ọkara lactose, shuga dị na mmiri ara ehi.

Ọ bụrụ na enyere nwatakịrị nwere galactosemia mmiri ara ehi, ihe ndị sitere na galactose na-etolite na sistemụ nwa ọhụrụ. Ihe ndị a na-emebi imeju, ụbụrụ, akụrụ, na anya.

Ndị nwere ọrịa galactosemia enweghị ike ịnabata ụdị mmiri ara ehi ọ bụla (mmadụ ma ọ bụ anụmanụ). Ha aghaghi ịkpachara anya banyere iri nri ndị ọzọ nwere galactose.

Antsmụaka nwere galactosemia nwere ike igosi ihe mgbaàmà na ụbọchị ole na ole nke ndụ ma ọ bụrụ na ha rie nri ma ọ bụ mmiri ara ara nke nwere lactose. Ihe mgbaàmà ya nwere ike ịbụ n'ihi ọrịa ọbara siri ike na nje E coli.

Mgbaàmà nke galactosemia bụ:

• Ọgba aghara
• Iwe
• Ike ọgwụgwụ
• Nri na-adịghị mma - nwa jụrụ iri nri nwere mmiri ara ehi
• Adighi ebu ibu
• Agba odo na ọcha nke anya (jaundice)
• Akpịrị

Ule iji lelee galactosemia gụnyere:

• Ọbara ọbara maka nje nje (E coli sepsis)
• Ọrụ enzyme na mkpụrụ ndụ ọbara uhie
• Ketones na mmamịrị
• Nchoputa nke omumu site na nyocha uzo enzyme galactose-1-phosphate uridyl transferase
• "Mbelata ihe" na mamịrị mamịrị, na ọbara shuga nkịtị ma ọ bụ dị ala ka a na-enye nwatakịrị ara mmiri ara ma ọ bụ usoro nwere lactose

Nyocha nwa amụrụ ọhụrụ n’ọtụtụ steeti na-enyocha galactosemia.

Nsonaazụ nnwale nwere ike igosi:

• Amino acid n’ime mmamịrị ma ọ bụ plasma ọbara
• Imeju imeju
• Mmiri n’ime afọ
• Ọbara shuga dị ala

Ndị nwere ọnọdụ a ga-ezere mmiri ara ehi niile, ngwaahịa nwere mmiri ara ehi (gụnyere mmiri ara ehi akọrọ), na nri ndị ọzọ nwere galactose, maka ndụ. Gụọ aha ngwaahịa iji jide n'aka na gị ma ọ bụ nwa gị nwere ọnọdụ ahụ anaghị eri nri nwere galactose.

Enwere ike inye ụmụ aka nri:

• Usoro soy
• Usoro ọzọ na-enweghị lactose
• Nchịkọta anụ ma ọ bụ Nutramigen (usoro protein hydrolyzate)

A na-atụ aro maka mgbakwunye calcium.

Galactosemia Foundation - www.galactosemia.org

Ndi mmadu n’achoputara na mbu ma gbochie ihe ndi mmiri ara ehi ghari ibi ndu di ndu. Agbanyeghị, isi adịghị nro nke uche nwere ike ịmalite, ọbụlagodi na ndị na-ezere galactose.

Nsogbu ndị a nwere ike ịmalite:

• Cataracts
• Cirrhosis nke imeju
• Gburugburu mmepe okwu
• Oge oge ịhụ nsọ, oge arụ ọrụ nke ovaries na-eduga n'ọdịdị ovarian na infertility
• Iche echiche
• Ọrịa siri ike na nje bacteria (E coli sepsis)
• Moma jijiji (ịma jijiji) na ọrụ moto na-enweghị ike ịchịkwa
• Ọnwụ (ọ bụrụ na galactose dị na nri)

Kpọọ onye nlekọta ahụike gị ma ọ bụrụ:

• Nwa gị nwere mgbaàmà galactosemia
• Have nwere akụkọ ihe mere eme nke ezinụlọ nke galactosemia ma na-atụle ịmụ ụmụ

Ọ bara uru ịmara akụkọ ntolite ezinụlọ gị. Ọ bụrụ na ị nwere akụkọ gbasara ezinụlọ nke galactosemia ma chọọ ịmụ ụmụ, ndụmọdụ gbasara mkpụrụ ndụ ihe nketa ga-enyere gị aka ime mkpebi banyere afọ ime na ule tupu ị mụọ nwa. Ozugbo emere nchọpụta nke galactosemia, a na-atụ aro maka mkpụrụ ndụ ihe nketa maka ndị ọzọ nọ n'ezinụlọ.

Ọtụtụ steeti na-enyocha ụmụ amụrụ ọhụrụ niile maka galactosemia. Ọ bụrụ na nnwale amụrụ ọhụrụ gosipụtara galactosemia nwere ike, ha kwesịrị ịkwụsị inye nwa ha mmiri ara ehi ozugbo ma jụọ onye na-enye ha ọrụ maka ime nyocha ọbara nke enwere ike ịme iji gosipụta nchoputa nke galactosemia.

Galactose-1-phosphate uridyl transferase erughi; Ụkọ Galactokinase; Galactose-6-phosphate ụkọ epimerase; GALT; OWU; GALE; Galactosemia ụkọ Epimerase defici; EGO GALE; Galactosemia ụdị nke atọ; UDP-galactose-4; Duarte dị iche iche

• Galactosemia

Berry GT. Omuma galactosemia na ogwu di iche iche galactosemia. 2000 Feb 4 [Emelitere 2017 Mar 9]. Na: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneRelee [Intanet]. Seattle (WA): Mahadum nke Washington, Seattle; 1993-2019. PMID: 20301691 www.ncbi.nlm.nih.gov/pubmed/20301691.

Bonnardeaux A, Bichet DG. Nsogbu eketa nke akụrụ akụrụ. Na: Skorecki K, Chertow GM, Marsden PA, Taal MW, Yu ASL, eds. Brenner na Rector nke akụrụ. Nke iri. Philadelphia, PA: Elsevier; 2016: isi 45.

Broomfield A, Brain C, Grunewald S. Galactosaemia: nyocha, njikwa na nsonaazụ ogologo oge. Paediatrics na Ahụike Childmụaka. 2015: 25 (3); 113-118. www.paediatricsandchildhealthjournal.co.uk/article/S1751-7222(14)00279-0/pdf.

Gibson KM, Pearl PL. Njehie amụrụ nke metabolism na usoro ụjọ. Na: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL. Ọkpụkpụ Bradley na Clinical Practice. Nke 7. Philadelphia, PA: Elsevier; 2016: isi nke 91.

Kishnani PS, Chen YT. Mmebi nke metabolism nke carbohydrates. Na: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Akwụkwọ ọgụgụ nke Ọrịa edimụaka. 21nke. Philadelphia, PA: Elsevier; 2020: isi 105.

Maitra A. Ọrịa nke nwata na nwata. Na: Kumar V, Abbas AK, Aster JC, eds. Robbins na Cotran Pathologic Basis nke Ọrịa. Agba nke 9. Philadelphia, PA: Elsevier Saunders; 2015: isi 10.